Rare Diseases

Plain language summary of the design of the APPEAR-C3G study which showed how iptacopan works in people with complement 3 glomerulopathy

This Plain Language Summary of Publication from Future Rare Diseases describes the results from an ongoing study which looks at whether a new medicine called iptacopan can be used to treat a rare kidney disease called complement 3 glomerulopathy (C3G). Read the full article here. The original article on which this Plain Language Summary of […]
The effects of palovarotene in patients with fibrodysplasia ossificans progressiva: a plain language summary

This plain language summary from Future Rare Diseases describes the results of the MOVE study, which investigated the drug palovarotene in the treatment of patients with fibrodysplasia ossificans progressiva (FOP).
Plain language summary of a study looking at the age at diagnosis and time to start of treatment in individuals with mucopolysaccharidosis type I (MPS I)

Read the plain language summary of a study which investigated the age when individuals were diagnosed with attenuated or severe Mucopolysaccharidosis type I.
The impact of fibrodysplasia ossificans progressiva (FOP) on patients and their family members: results from an international burden of illness survey

Learn about the results of the first international fibrodysplasia ossificans progressiva burden of illness survey in this plain language summary.
Plain language summary of a study looking at the age at diagnosis and time to start of treatment in individuals with mucopolysaccharidosis type I (MPS I)

The latest plain language summary in Future Rare Diseases describes a study using data from the MPS I Registry that looks at the age when individuals were diagnosed with mucopolysaccharidosis type I and the time taken for them to start treatment with enzyme replacement therapy or hematopoietic stem cell transplantation.
Plain language summary of the International Collaborative Gaucher Group Gaucher Risk Assessment for Fracture score in people living with Gaucher Disease Type 1

A plain language summary from Future Rare Diseases discusses a recent publication looking at a new assessment that could help researchers predict if people with Gaucher Disease Type 1 receiving ERT might have a fracture in the future.
Plain language summary: How the Pompe Registry is helping to identify and explain gene changes in Pompe disease

This plain language summary discusses a recent publication analysing data from the Pompe Registry looking at gene changes that can result in Pompe disease.
Plain language summary of a study looking at heart muscle thickness and kidney function in women with Fabry disease who received agalsidase beta treatment

The new plain language summary of publication in Future Cardiology uses information from the Fabry Registry to understand the effects of agalsidase beta treatment in women with Fabry disease.
Prednisone and deflazacort in Duchenne muscular dystrophy: a patient perspective and plain language summary publication of the Cincinnati study

This plain language summary of publication, co-authored by a patient, a caregiver and a treating physician, includes the patient perspective and help patients with Duchenne muscular dystrophy and their caregivers understand the results of the Cincinnati study.
Plain language summary of the MPOWERED trial comparing the effectiveness, safety, and patient experiences’ of monthly injections and oral medication used to treat acromegaly

The MPOWERED study looked oral octreotide as a treatment for patients with acromegaly. This plain language summary can help people understand the findings from this study.
Plain language summary of the long-term effect of ataluren in patients with Duchenne muscular dystrophy

Read the latest plain language summary looking at how ataluren treatment in combination with standard of care can delay important signs of disease progression in patients with Duchenne muscular dystrophy.
Vosoritide treatment accelerates bone growth in children with achondroplasia

Read the article summarising the results of two studies looking at vosoritide as a potential treatment for children with achondroplasia.
ENLIVEN study: Pexidartinib for tenosynovial giant cell tumor (TGCT)

The first of it’s kind published in a peer-reviewed journal, this article published in Future Oncology provides a lay language summary of the ENLIVEN study.